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dbVar

Database of genomic structural variation

nsv5571089

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:58

Publication(s):Ebert et al. 2021

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 267 SVs from 41 studies. See in: genome view

Submitted genomic6,579,243-6,579,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5571089	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	6,579,243	6,579,300
nsv5571089	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	6,580,970	6,581,027

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17135366	deletion	SAMN00001695	Sequencing	Sequence alignment	6,153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17135366	Submitted genomic		NC_000004.12:g.657 9243_6579300delC	GRCh38 (hg38)		NC_000004.12	Chr4	6,579,243	6,579,300
nssv17135366	Remapped	Perfect	NC_000004.11:g.658 0970_6581027delC	GRCh37.p13	First Pass	NC_000004.11	Chr4	6,580,970	6,581,027

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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